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Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene.
Skuplik, Isabella; Benito-Sanz, Sara; Rosin, Jessica M; Bobick, Brent E; Heath, Karen E; Cobb, John.
Affiliation
  • Skuplik I; Department of Biological Sciences, University of Calgary, 2500 University Drive N.W., Calgary, Alberta, T2N 1N4, Canada.
  • Benito-Sanz S; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ and Skeletal dysplasia multidisciplinary unit (UMDE), Hospital Universitario La Paz, Universidad Autónoma de Madrid, P° Castellana 261, 28046, Madrid, Spain.
  • Rosin JM; CIBERER, ISCIII, Madrid, Spain.
  • Bobick BE; Department of Biological Sciences, University of Calgary, 2500 University Drive N.W., Calgary, Alberta, T2N 1N4, Canada.
  • Heath KE; Department of Biological Sciences, University of Calgary, 2500 University Drive N.W., Calgary, Alberta, T2N 1N4, Canada.
  • Cobb J; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ and Skeletal dysplasia multidisciplinary unit (UMDE), Hospital Universitario La Paz, Universidad Autónoma de Madrid, P° Castellana 261, 28046, Madrid, Spain. karen.heath@salud.madrid.org.
Sci Rep ; 8(1): 14292, 2018 09 24.
Article in En | MEDLINE | ID: mdl-30250174
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Enhancer Elements, Genetic / Gene Deletion / Short Stature Homeobox Protein Type of study: Diagnostic_studies Limits: Animals / Humans Language: En Journal: Sci Rep Year: 2018 Type: Article Affiliation country: Canada
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Enhancer Elements, Genetic / Gene Deletion / Short Stature Homeobox Protein Type of study: Diagnostic_studies Limits: Animals / Humans Language: En Journal: Sci Rep Year: 2018 Type: Article Affiliation country: Canada